Incidental Mutation 'R4451:Mfsd14a'
ID 328956
Institutional Source Beutler Lab
Gene Symbol Mfsd14a
Ensembl Gene ENSMUSG00000089911
Gene Name major facilitator superfamily domain containing 14A
Synonyms Hiat1
MMRRC Submission 041712-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R4451 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 116424813-116456264 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 116456127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000029570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029570]
AlphaFold P70187
Predicted Effect probably null
Transcript: ENSMUST00000029570
AA Change: M1V

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
AA Change: M1V

DomainStartEndE-ValueType
Pfam:MFS_1 40 388 3.4e-33 PFAM
Pfam:MFS_2 182 407 3.6e-10 PFAM
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138418
Predicted Effect probably benign
Transcript: ENSMUST00000140672
SMART Domains Protein: ENSMUSP00000114952
Gene: ENSMUSG00000105103

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 2 129 2.4e-39 PFAM
Pfam:MFS_1 104 235 1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197000
Meta Mutation Damage Score 0.7284 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (43/43)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with oligozoospermia, globozoospermia, and defects in spermiogenesis and acrosome formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 A C 5: 62,906,513 (GRCm39) F169V probably benign Het
Baiap2l1 T A 5: 144,215,362 (GRCm39) Y381F probably damaging Het
Cdc27 A T 11: 104,408,221 (GRCm39) M563K probably benign Het
Cela3b G A 4: 137,148,355 (GRCm39) probably benign Het
Cyp2c29 A T 19: 39,279,270 (GRCm39) D50V probably damaging Het
Dbpht2 A T 12: 74,345,806 (GRCm39) noncoding transcript Het
Dnah9 T A 11: 65,772,467 (GRCm39) Q3755L probably benign Het
Dnajc2 T C 5: 21,962,792 (GRCm39) T588A possibly damaging Het
Dync2h1 T A 9: 6,983,477 (GRCm39) R4022S probably benign Het
Gm20481 T G 17: 35,191,109 (GRCm39) probably benign Het
Gm7347 A G 5: 26,260,004 (GRCm39) I182T possibly damaging Het
Gns G A 10: 121,212,601 (GRCm39) G188S probably damaging Het
Grm5 T G 7: 87,724,340 (GRCm39) probably null Het
Gstm4 T C 3: 107,951,291 (GRCm39) probably null Het
Il7r T A 15: 9,513,034 (GRCm39) K158N probably benign Het
Irs1 T C 1: 82,266,749 (GRCm39) Y489C probably benign Het
Kcns1 C T 2: 164,010,598 (GRCm39) E54K possibly damaging Het
Klra5 T A 6: 129,885,797 (GRCm39) R31* probably null Het
Krt13 T C 11: 100,008,827 (GRCm39) T409A unknown Het
Lce1e C T 3: 92,614,967 (GRCm39) G127S unknown Het
Micall2 T C 5: 139,692,852 (GRCm39) E891G probably damaging Het
Mpeg1 A T 19: 12,440,596 (GRCm39) K685* probably null Het
Nbea A G 3: 55,899,753 (GRCm39) probably null Het
Nup155 A G 15: 8,180,366 (GRCm39) M1148V probably benign Het
Or51aa5 A G 7: 103,167,184 (GRCm39) S136P probably damaging Het
Or5m3b T C 2: 85,872,303 (GRCm39) S215P probably damaging Het
Otof T A 5: 30,542,508 (GRCm39) D695V possibly damaging Het
Ptf1a G T 2: 19,451,092 (GRCm39) A141S possibly damaging Het
Pxmp2 A T 5: 110,425,531 (GRCm39) V168E probably damaging Het
Rab11fip1 T C 8: 27,644,505 (GRCm39) K427E probably damaging Het
Susd2 A G 10: 75,475,232 (GRCm39) V526A probably damaging Het
Tbx2 T C 11: 85,731,643 (GRCm39) S647P probably damaging Het
Tg A G 15: 66,637,996 (GRCm39) T651A probably benign Het
Trim68 T A 7: 102,333,680 (GRCm39) M1L probably damaging Het
Ttn A C 2: 76,584,250 (GRCm39) L20540* probably null Het
Usf3 A T 16: 44,038,251 (GRCm39) K910N possibly damaging Het
Vmn1r14 T G 6: 57,211,213 (GRCm39) Y220D possibly damaging Het
Vmn1r209 T A 13: 22,990,668 (GRCm39) K7N probably benign Het
Other mutations in Mfsd14a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03189:Mfsd14a APN 3 116,435,504 (GRCm39) missense probably benign 0.16
IGL03197:Mfsd14a APN 3 116,430,012 (GRCm39) missense probably benign 0.01
R1166:Mfsd14a UTSW 3 116,427,543 (GRCm39) unclassified probably benign
R1796:Mfsd14a UTSW 3 116,428,596 (GRCm39) missense probably damaging 1.00
R1842:Mfsd14a UTSW 3 116,426,057 (GRCm39) missense possibly damaging 0.93
R1871:Mfsd14a UTSW 3 116,434,969 (GRCm39) missense probably benign 0.11
R2155:Mfsd14a UTSW 3 116,441,479 (GRCm39) missense probably damaging 1.00
R2176:Mfsd14a UTSW 3 116,426,042 (GRCm39) missense probably benign 0.00
R3078:Mfsd14a UTSW 3 116,441,566 (GRCm39) splice site probably benign
R4794:Mfsd14a UTSW 3 116,439,155 (GRCm39) intron probably benign
R5197:Mfsd14a UTSW 3 116,442,150 (GRCm39) intron probably benign
R5868:Mfsd14a UTSW 3 116,427,399 (GRCm39) missense probably benign
R7098:Mfsd14a UTSW 3 116,435,361 (GRCm39) missense probably benign 0.22
R7603:Mfsd14a UTSW 3 116,427,532 (GRCm39) missense probably damaging 0.97
R7836:Mfsd14a UTSW 3 116,442,200 (GRCm39) missense possibly damaging 0.95
R9229:Mfsd14a UTSW 3 116,439,118 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- AAGGTAGCCGAACAGCTCC -3'
(R):5'- CCGCTATTGCAGGGTTGGAG -3'

Sequencing Primer
(F):5'- TGGGACAACGCACGTAC -3'
(R):5'- CGTGGCGAGCGACTCAG -3'
Posted On 2015-07-21